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Trisomy 9p, a Chromosome Aberration with Distinct Radiologic Findings


Schinzel, Albert (1979). Trisomy 9p, a Chromosome Aberration with Distinct Radiologic Findings. Radiology, 130(1):125-133.

Abstract

Radiographic analysis of 33 cases of trisomy 9p (21 familial, 12 nonfamilial) disclosed consistent abnormalities in the hands, feet, and pelvic bones, with one exception (subsequently considered a misdiagnosis). Most of the abnormalities were present only during the period of epiphyseal growth and occurred with similar frequency in both familial and nonfamilial cases. There was no correlation between the severity of osseous involvement and the amount of trisomic chromosomal material. The pattern of radiographic findings in trisomy 9p appears to be unique, at least among chromosome aberrations, and may help in establishing a specific diagnosis in nonfamilial cases.

Abstract

Radiographic analysis of 33 cases of trisomy 9p (21 familial, 12 nonfamilial) disclosed consistent abnormalities in the hands, feet, and pelvic bones, with one exception (subsequently considered a misdiagnosis). Most of the abnormalities were present only during the period of epiphyseal growth and occurred with similar frequency in both familial and nonfamilial cases. There was no correlation between the severity of osseous involvement and the amount of trisomic chromosomal material. The pattern of radiographic findings in trisomy 9p appears to be unique, at least among chromosome aberrations, and may help in establishing a specific diagnosis in nonfamilial cases.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Radiology, Nuclear Medicine and Imaging
Uncontrolled Keywords:Radiology, Nuclear Medicine and imaging, Genetics, Genetics (clinical), Bones, Bones abnormalities, Chromosomal aberrations, Familial conditions, Hand abnormalities, Foot abnormalities, Pelvis abnormalities
Language:English
Date:January 1979
Deposited On:28 Mar 2024 10:21
Last Modified:30 Apr 2024 01:53
Publisher:Radiological Society of North America
ISSN:0033-8419
OA Status:Green
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1148/130.1.125
Related URLs:https://api.semanticscholar.org/CorpusID:45860144 (Organisation)
PubMed ID:758640
Other Identification Number:Corpus ID: 45860144
  • Content: Published Version
  • Language: English
  • Licence: Creative Commons: Attribution 4.0 International (CC BY 4.0)